Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Deletion (frameshift variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1C +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (genic downstream transcript variant) | Bethlem myopathy 1C +1 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Indel (splice donor variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene